Exams and Tests

The doctor or health-care practitioner will perform a complete history and physical examination, including measurements of the child's height, weight, limbs, and trunk. The doctor may perform blood tests to determine if the cause of short stature is related to a hormone deficiency or genetic disorder. Tests that may be performed include the following:

• To screen for growth hormone deficiency, a blood test to check levels of insulin-like growth factor-1 (IGF-1) and IGF binding protein-3 (IGFBP-3)
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• To assess for blood diseases, a complete blood count
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• To exclude hypothyroidism, blood levels of total thyroxine (T₄) and thyroid-stimulating hormone (TSH)
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• To exclude Turner syndrome (a common cause of short stature in girls), a karyotype to detect chromosomal abnormalities
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• To exclude SHOX gene mutations, a simple blood test for DNA analysis
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The doctor may take a simple x-ray of the left hand and wrist to assess bone age.

Other scans and special tests may be performed if a tumor is suspected to be the cause of delayed growth.